Fig. 1

Structure of cathepsin K gene showing the distribution of the 51 reported mutations. There are 31 Missenses mutations (black), 9 frameshifts and 1 codon deletion mutations (green), 5 nonsense mutations (red), 4 splice mutations (blue) and 1 stop codon mutation (orange). Exon 1 and the final portion of exon 8 are non-coding (black). The exons are colored according to region of protein they encode. Yellow represents the Pre region (15 amino acids), blue indicates the Pro region (99 amino acids) and red represents the mature protein region (215 amino acids). The mutations found in the present study are into the red boxes and the novel mutation is highlighted with a red arrow. For more details about the described mutations see Additional file 2